ATTR Gene Mutation

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Review clinical trials related to ATTR Gene Mutation. Use filters to narrow results by trial status, phase, treatment, biological sex and sponsor.

Condition / disease
Location
Status: Recruiting

Analysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis

Primary objective: To identify older adults with transthyretin cardiac amyloidosis (ATTR-CA) early in the course of the illness, at a time when disease modifying therapies are most effective. The specific aims of this epidemiologic investigation include: 1. To identify subjects with previous lumbar spinal stenosis (LSS) Surgery who have evidence of transthyretin (TTR) amyloid deposits in spinal specimens and could be at risk for ATTR cardiac amyloidosis. 2. To evaluate for ATTR-CA among those with localized TTR in the spinal tissue. The study will also explore the following: 1. The prevalence of amyloid in lumbar spinal stenosis specimens by Congo Red staining. 2. The prevalence of TTR deposits among subjects with amyloid as determined by mass spectrometry. 3. Evaluation of a novel artificial intelligence technique for that can identify amyloid histologically with standard H\&E staining. 4. Difference in ATTR-CA prevalence between subjects with TTR and indeterminate amyloid deposits in subject's spine by myocardial uptake of technetium pyrophosphate scan (Tc99-PYP).

Participants needed: 1,663
Trial details
Age: 50+Biological sex: AllType: ObservationalSponsor: Columbia UniversityUpdated: Jun 4, 2026Locations: 6
Eligibility criteria

Clinically indicated spinal decompressive surgery within 20 years prior to enrol... [+2]

Confirmed primary amyloidosis (AL) or secondary amyloidosis (AA). [+2]

Status: Not yet recruiting

PET/CT Imaging in Carriers of TTR Mutations

The purpose of this study is to determine if TTR gene carriers have early signs of a type of heart disease called amyloidosis using a new radiotracer dye (iodine-124 evuzamitide, I-124E). Participants will undergo a screening that includes a medical history review and completion of quality-of-life surveys. Once screening is complete, participants will undergo an imaging test called a positron emission tomography (PET) scan combined with computed tomography (PET/CT) to make images of the body. The new radiotracer dye (I-124E, a radioactive contrast) will be used during the PET/CT to make amyloidosis visible in the heart and body.

Participants needed: 80
Trial details
Age: 30-80Biological sex: AllType: ObservationalSponsor: University of Texas Southwestern Medical CenterUpdated: May 19, 2026Locations: 1
Eligibility criteria

men and women ages 30-80 who are pathogenic allele TTR carriers without history... [+48]

Status: Not yet recruiting

EOSS-ATTR Study (eHealth Based Operative Support System in ATTR-CM)

Unicenter, proof-of-concept, prospective, randomised, controlled, open-label and blinded end-point adjudication trial to assess the effect on patient-reported outcomes measures (PROMs), patient-reported experience measures (PREMs) and clinical events of a mHealth-based comprehensive management program for patients with chronic heart failure (HF) due to transthyretin-associated amyloidosis (ATTR)-cardiomyopathy (CM) by means of remote daily telemonitoring of signs and symptoms and remote structured follow-up using videoconference.

Participants needed: 50
Trial details
Age: 18+Biological sex: AllType: InterventionalSponsor: Hospital Universitari de BellvitgeUpdated: Oct 23, 2024
Eligibility criteria

Age ≥ 18 years old [+4]

Age<18 years old [+13]

Status: Recruiting

ATTR Cardiac Amyloidosis in a Selected Population

Patients operated for carpal tunnel syndrome (CTS) at Ålesund Hospital (200 patients) will have a biopsy to diagnose ATTR amyloidosis. Patients with positive biopsy will be examined to decide wether they have cardiac amyloidosis. All patients with positive biopsy will be followed closely for 10 years wit echocardiography an clinically.

Participants needed: 180
Trial details
Age: 50+Biological sex: AllType: ObservationalSponsor: Helse Møre og Romsdal HFUpdated: Oct 16, 2024Locations: 1
Eligibility criteria

Male > 50 years [+2]

not consented [+4]